News and stories

The latest Action Plan to implement the UK Rare Diseases Framework in England is out today. Minister Ashley Dalton, Parliamentary Under Secretary of State for Health and Social Care, introduced the paper on Tuesday at the Rare Disease Day Westminster reception. As at last year’s event the minister praised Genetic Alliance UK and our members for the advice and support we have provided to this plan’s delivery. The minister also spent time before her speech meeting many of our members and people living with rare conditions.

NICE publishes first quality standard to improve care for people with rare conditions

Genetic Alliance UK welcomes the appointment of Sharon Hodgson MP as Parliamentary Under-Secretary of State in the Department for Health and Social Care. Under this portfolio, the Minister will be responsible for rare diseases.

After a phone call revealed his baby daughter had cystic fibrosis, Huw reflects on the shock, hope, and the urgent need for fairness in rare disease care.

New report on how to address structural and cultural barriers to PPIE in academic research

We are delighted to share the fantastic news that health ministers across the UK have agreed to extend the UK Rare Diseases Framework by one year. This is a vital step and ensures continuity in rare conditions policy for our community. This extension means each nation can continue to deliver their Rare Diseases Action Plan, driving improvements in care for people with rare conditions and building on the foundations established over the last five years.

Our role in The LifeArc Translational Centres for Rare Disease

Celebrating Inclusive Research: Patient and Public Involvement and Engagement (PPIE) Award 2025 for Early Career Researchers

After a decade of unanswered questions, Janet finally discovered she has Laryngeal mucous membrane plasmacytosis – a condition so rare she can no longer eat and survives entirely on intravenous nutrition. Through career changes, adapting daily life, and finding new passions, she’s built a life beyond her diagnosis. This is Janet's story.

Genetic Alliance UK supported LifeArc to launch the Accelerating R&D (research and development) for rare disease in the UK report.

In 2020, Celine Lewis, a behavioural scientist who previously worked at Genetic Alliance UK, embarked on a project to look at the delivery of whole genome sequencing in the NHS (the Genomic Medicine Service, or GMS). The focus was on how well the GMS is working in the diagnosis of rare diseases in children in England. It examined how the new service was rolled out, how prepared healthcare professionals felt, communication practices, parents’ experiences, and psychological impacts. Here she explains some of the work she and her team conducted and the key findings.